HLA-C


Summary: HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
major histocompatibility complex, class I, CMIM:142840Ensembl:ENSG00000204525HGNC:HGNC:4933PA350576p21.33

GO terms in HLA-C


Term TypeEvidence TypeGO Term IDGO Des.
BPIBAGO:0001916positive regulation of T cell mediated cytotoxicity
BPIBAGO:0002474antigen processing and presentation of peptide antigen via MHC class I
BPTASGO:0002474antigen processing and presentation of peptide antigen via MHC class I
BPIBAGO:0002476antigen processing and presentation of endogenous peptide antigen via MHC class Ib
BPTASGO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
BPTASGO:0002480antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
BPIBAGO:0006955immune response
BPIEAGO:0016032viral process
BPTASGO:0050776regulation of immune response
BPTASGO:0060333interferon-gamma-mediated signaling pathway
BPTASGO:0060337type I interferon signaling pathway
CCTASGO:0000139Golgi membrane
CCISSGO:0005783endoplasmic reticulum
CCISSGO:0005794Golgi apparatus
CCIBAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCISSGO:0009986cell surface
CCTASGO:0012507ER to Golgi transport vesicle membrane
CCTASGO:0030670phagocytic vesicle membrane
CCTASGO:0031901early endosome membrane
CCISSGO:0042612MHC class I protein complex
CCTASGO:0055038recycling endosome membrane
CCTASGO:0071556integral component of lumenal side of endoplasmic reticulum membrane
MFIBAGO:0005102signaling receptor binding
MFIPIGO:0005515protein binding
MFIBAGO:0042605peptide antigen binding
MFISSGO:0042605peptide antigen binding

Gene expression in normal tissue: HLA-C

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in HLA-C


DatabasePathway IDPathway Des.
wikipathwaysWP183Proteasome Degradation
wikipathwaysWP2328Allograft Rejection
kegghsa04144Endocytosis - Homo sapiens (human)
kegghsa04145Phagosome - Homo sapiens (human)
kegghsa04218Cellular senescence - Homo sapiens (human)
kegghsa04514Cell adhesion molecules (CAMs) - Homo sapiens (human)
kegghsa04612Antigen processing and presentation - Homo sapiens (human)
kegghsa04650Natural killer cell mediated cytotoxicity - Homo sapiens (human)
kegghsa04940Type I diabetes mellitus - Homo sapiens (human)
kegghsa05165Human papillomavirus infection - Homo sapiens (human)
kegghsa05166HTLV-I infection - Homo sapiens (human)
kegghsa05167Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human)
kegghsa05168Herpes simplex infection - Homo sapiens (human)
kegghsa05169Epstein-Barr virus infection - Homo sapiens (human)
kegghsa05203Viral carcinogenesis - Homo sapiens (human)
kegghsa05320Autoimmune thyroid disease - Homo sapiens (human)
kegghsa05330Allograft rejection - Homo sapiens (human)
kegghsa05332Graft-versus-host disease - Homo sapiens (human)
kegghsa05416Viral myocarditis - Homo sapiens (human)
reactomeR-HSA-1236974ER-Phagosome pathway
reactomeR-HSA-1236974ER-Phagosome pathway
reactomeR-HSA-1236975Antigen processing-Cross presentation
reactomeR-HSA-1236975Antigen processing-Cross presentation
reactomeR-HSA-1236977Endosomal/Vacuolar pathway
reactomeR-HSA-1280215Cytokine Signaling in Immune system
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-198933Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
reactomeR-HSA-6798695Neutrophil degranulation
reactomeR-HSA-877300Interferon gamma signaling
reactomeR-HSA-909733Interferon alpha/beta signaling
reactomeR-HSA-913531Interferon Signaling
reactomeR-HSA-983169Class I MHC mediated antigen processing & presentation
reactomeR-HSA-983169Class I MHC mediated antigen processing & presentation
reactomeR-HSA-983170Antigen Presentation: Folding, assembly and peptide loading of class I MHC
reactomeR-HSA-983170Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD748PHA-6657522
iGMDRD806Adoptive T-cell Transfer1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in HLA-C

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